Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Congenital glaucoma: genetic models.

F Demenais, C Bonaïti, M L Briard

    Human Genetics
    |February 15, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Associations of pigmentary and naevus phenotype with melanoma risk in two populations with comparable ancestry but contrasting levels of ambient sun exposure.

    Journal of the European Academy of Dermatology and Venereology : JEADV·2019
    Same author

    The COL5A3 and MMP9 genes interact in eczema susceptibility.

    Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology·2017
    Same author

    Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma.

    Scientific reports·2017
    Same author

    Adult onset asthma and interaction between genes and active tobacco smoking: The GABRIEL consortium.

    PloS one·2017
    Same author

    Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

    Neurobiology of aging·2016
    Same author

    Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.

    Revue neurologique·2015
    Same journal

    AI in variant analysis: fast track to genetic diagnoses.

    Human genetics·2026
    Same journal

    Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder.

    Human genetics·2026
    Same journal

    Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.

    Human genetics·2026
    Same journal

    ARHI as a key regulator of EMT and metastasis in pancreatic cancer via the Notch-1 pathway.

    Human genetics·2026
    Same journal

    Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations.

    Human genetics·2026
    Same journal

    Correction: A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification.

    Human genetics·2026
    See all related articles

    Genetic heterogeneity is proposed for congenital glaucoma, as inheritance patterns are complex. This study provides recurrence risks and genetic counseling guidelines for this rare eye condition.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Pediatrics

    Background:

    • Congenital glaucoma is a rare, severe developmental disorder of the eye.
    • Understanding its inheritance patterns is crucial for diagnosis and management.
    • Previous studies have explored simple Mendelian inheritance models.

    Purpose of the Study:

    • To investigate the modes of inheritance for congenital glaucoma.
    • To determine if a single mode of inheritance explains all cases.
    • To propose a genetic model and provide counseling information.

    Main Methods:

    • Complex segregation analysis was performed.
    • The frequency of congenital glaucoma in relatives of varying degrees was assessed.
    • Data were analyzed to evaluate different inheritance models.

    Related Experiment Videos

    Main Results:

    • Neither complex segregation analysis nor relative frequency data supported a unitary mode of inheritance.
    • The findings suggest that congenital glaucoma likely arises from multiple genetic factors or different inheritance patterns.
    • Genetic heterogeneity is a plausible explanation for the observed inheritance patterns.

    Conclusions:

    • Congenital glaucoma does not follow a single mode of inheritance.
    • Genetic heterogeneity is proposed as the underlying cause.
    • Recurrence risks and genetic counseling guidelines are provided based on these findings.